Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004273.5:c.911G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
143095.1.1 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | |
143095.1.2 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.1.1 |
143095.1.3 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.1.1 |
143095.1.4 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.1.1 |
143095.1.6 | Oman | Female | Yes | Unaffected mother of 143095.1.1 |